Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to <i>FOXA2</i> Gene Defects

Abstract Context Developmental disorders of the pituitary gland leading to congenital hypopituitarism can either be isolated or associated with extrapituitary abnormalities (syndromic hypopituitarism). A large number syndromic cases are linked mutations in transcription factors. The forkhead box A2 (FOXA2) is a factor that plays key role central nervous system, foregut, and pancreatic development. Objective This work aims characterize 2 patients due FOXA2 gene defects. Results We report novel heterozygous nonsense c.616C &amp;gt; T(p.Q206X) variant leads truncated protein lacks part DNA-binding domain FOXA2, resulting impaired transcriptional activation glucose transporter type (GLUT2)-luciferase reporter. patient sixth described literature mutation, first exhibiting hypoplasia. also second de novo 8.53 Mb deletion 20p11.2 encompasses who developed diabetes mellitus responded sulfonylurea treatment. Conclusion Our broaden molecular clinical spectrum FOXA2-related disease, reporting mutation case dysgenesis.